GenTIGS

List of monogenic disorders and their associated genes
Monogenic disorders arise from mutations in a single gene, but variations within that gene or in multiple genes can also lead to similar phenotypes, typically following Mendelian inheritance patterns associated with specific genetic changes.

View information by inheritance mode

S.No.	Genetic Disorders (Gentigs update) Modes of inheritance	Category	Gene symbol	Links	Indian context
11	Acute fatty liver of pregnancy (Nov 30, 2023) Autosomal recessive	Metabolic disorders	HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	PubMed	Reports
12	Acute febrile neutrophilic dermatosis (Dec 29, 2023) Autosomal dominant	Skin disorders	MEFV MEFV innate immunity regulator, pyrin	PubMed	Reports
13	Adams-Oliver syndrome 1 (Feb 01, 2024) Autosomal dominant	Bone disorders	ARHGAP31 Rho GTPase activating protein 31	PubMed	Reports
14	Adenine phosphoribosyltransferase deficiency (Feb 01, 2024) Autosomal recessive	Metabolic disorders	APRT adenine phosphoribosyltransferase	PubMed	Reports
15	Adenylosuccinate lyase deficiency (Feb 01, 2024) Autosomal recessive	Metabolic disorders	ADSL adenylosuccinate lyase	PubMed	Reports
16	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder (Nov 30, 2023) Autosomal dominant	Neurodevelopmental disorders	ADNP activity dependent neuroprotector homeobox	PubMed	Reports
17	Adrenocortical carcinoma (Nov 30, 2023)	Cancer disorders	TP53 tumor protein p53	PubMed	Reports
18	Adrenoleukodystrophy (Mar 09, 2023) X-linked dominant	Metabolic disorders	ABCD1 ATP binding cassette subfamily D member 1	PubMed	Reports
19	Adult polyglucosan body disease (Feb 01, 2024) Autosomal recessive	Metabolic disorders	GBE1 1,4-alpha-glucan branching enzyme 1	PubMed	Reports
20	ADULT syndrome (Nov 30, 2023) Autosomal dominant	Skin disorders	TP63 tumor protein p63	PubMed	Reports

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